Canonical Allele Identifier: CA416031545

Gene: H6PD

Linked Data

• gnomAD v4: 1-9264212-C-T
• MyVariant Identifiers: chr1:g.9324271C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264212C>T , CM000663.2:g.9264212C>T	GRCh38
NC_000001.10:g.9324271C>T , CM000663.1:g.9324271C>T	GRCh37
NC_000001.9:g.9246858C>T	NCBI36
NG_012218.1:g.34409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1719C>T MANE Select	ENSP00000366620.2:p.Ala573=
ENST00000377403.6:c.1719C>T	ENSP00000366620.1:p.Ala573=
ENST00000602477.1:c.1752C>T	ENSP00000473348.1:p.Ala584=
NM_001282587.1:c.1752C>T	NP_001269516.1:p.Ala584=
NM_004285.3:c.1719C>T	NP_004276.2:p.Ala573=
XM_005263539.3:c.1752C>T	XP_005263596.1:p.Ala584=
XM_005263540.3:c.1746C>T	XP_005263597.1:p.Ala582=
XM_006711052.2:c.1719C>T	XP_006711115.1:p.Ala573=
XM_011542446.1:c.1719C>T	XP_011540748.1:p.Ala573=
XM_005263540.5:c.1746C>T	XP_005263597.1:p.Ala582=
XM_006711052.4:c.1719C>T	XP_006711115.1:p.Ala573=
XM_017002865.2:c.1719C>T	XP_016858354.1:p.Ala573=
XM_017002866.2:c.651C>T	XP_016858355.1:p.Ala217=
NM_001282587.2:c.1752C>T	NP_001269516.1:p.Ala584=
NM_004285.4:c.1719C>T MANE Select	NP_004276.2:p.Ala573=